Incidental Mutation 'R5462:Acyp2'
| ID |
433074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acyp2
|
| Ensembl Gene |
ENSMUSG00000060923 |
| Gene Name |
acylphosphatase 2, muscle type |
| Synonyms |
2310004B09Rik |
| MMRRC Submission |
043024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
R5462 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
30455991-30599587 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30456354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 98
(E98K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074613]
|
| AlphaFold |
P56375 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074613
AA Change: E98K
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074195
Gene: ENSMUSG00000060923
AA Change: E98K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acylphosphatase
|
10 |
105 |
1.5e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.1234 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
| 4933412E24Rik |
A |
G |
15: 59,886,917 (GRCm39) |
F508L |
probably benign |
Het |
| Amz1 |
A |
G |
5: 140,733,976 (GRCm39) |
Y184C |
probably damaging |
Het |
| Calm3 |
A |
T |
7: 16,651,619 (GRCm39) |
D23E |
possibly damaging |
Het |
| Cep112 |
T |
A |
11: 108,409,570 (GRCm39) |
N479K |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,436,695 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
C |
8: 16,011,486 (GRCm39) |
N2522K |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,930,042 (GRCm39) |
L18P |
probably damaging |
Het |
| E2f2 |
A |
T |
4: 135,900,224 (GRCm39) |
T45S |
probably benign |
Het |
| Grk3 |
T |
C |
5: 113,117,074 (GRCm39) |
Y67C |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,042,851 (GRCm39) |
C2290* |
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,233,175 (GRCm39) |
T1853A |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,164,655 (GRCm39) |
L1587P |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,720,897 (GRCm39) |
N2337D |
probably benign |
Het |
| Mettl3 |
T |
C |
14: 52,537,336 (GRCm39) |
Q182R |
probably damaging |
Het |
| Mterf1b |
A |
G |
5: 4,246,541 (GRCm39) |
S61G |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,437,562 (GRCm39) |
Y2100C |
probably damaging |
Het |
| Nt5m |
T |
A |
11: 59,765,385 (GRCm39) |
W138R |
probably damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,640 (GRCm39) |
Y252C |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,486,728 (GRCm39) |
Y114H |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,453,971 (GRCm39) |
S322T |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,857,171 (GRCm39) |
D373E |
probably damaging |
Het |
| Snx29 |
A |
T |
16: 11,328,876 (GRCm39) |
M552L |
possibly damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,050,520 (GRCm39) |
F2356L |
possibly damaging |
Het |
| Tbc1d10c |
G |
T |
19: 4,238,052 (GRCm39) |
Q241K |
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,417,045 (GRCm39) |
I56T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,238 (GRCm39) |
Y753C |
probably damaging |
Het |
| Vmn2r37 |
A |
G |
7: 9,220,973 (GRCm39) |
W297R |
probably damaging |
Het |
| Zbtb47 |
G |
T |
9: 121,596,729 (GRCm39) |
R695L |
probably damaging |
Het |
| Zfp267 |
C |
T |
3: 36,219,969 (GRCm39) |
T664I |
possibly damaging |
Het |
|
| Other mutations in Acyp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01587:Acyp2
|
APN |
11 |
30,456,362 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02365:Acyp2
|
APN |
11 |
30,599,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Acyp2
|
UTSW |
11 |
30,456,452 (GRCm39) |
splice site |
probably benign |
|
|
R2419:Acyp2
|
UTSW |
11 |
30,582,316 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5389:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5393:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5423:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5425:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5426:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5460:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5464:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5560:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5561:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5602:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5826:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5901:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5902:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5999:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6046:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6066:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6107:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6128:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6196:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6198:Acyp2
|
UTSW |
11 |
30,456,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCTTGCTAAAACATAGGTGAG -3'
(R):5'- GAGCAAGGTAATACTGACCTTGAAG -3'
Sequencing Primer
(F):5'- AGGTGAGTAAATGTTTTCAGTTTCAG -3'
(R):5'- GGTAATACTGACCTTGAAGAGTTTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation